Human Gene Set: HP_BLISTERING_BY_HISTOLOGICAL_LOCATION


Standard name HP_BLISTERING_BY_HISTOLOGICAL_LOCATION
Systematic name M47302
Brief description Blistering by histological location
Full description or abstract Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa. [PMID:20055907]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0033801
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0033801
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
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Version history 2023.2.Hs: First Introduced.

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